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Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.

Cerebellum (London, England) - 1 Feb 2022

da Graça Felipe Franco, Peluzzo Thiago M, Bonadia Luciana Cardoso, Martinez Alberto Rolim Muro, Diniz de Lima Fabricio, Pedroso José Luiz, Barsottini Orlando G P, Gama Maria Thereza Drummond, Akçimen Fulya, Dion Patrick A, Rouleau Guy A, Marques Wilson, França Marcondes Cavalcante

Abstract excerpt

Previous studies using whole exome sequencing (WES) have shown that a significant proportion of adult patients with undiagnosed ataxia in European and North American cohorts have a known genetic cause. Little is known about the diagnostic yield of WES in non-Caucasian ataxic populations. Herein, we used WES to investigate a Brazilian cohort of 76 adult patients with idiopathic ataxia previously screened for...

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PMID: 33956305
DOI: 10.1007/s12311-021-01268-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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